ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+277G>T

dbSNP: rs2064232777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018860 SCV002265038 uncertain significance Brugada syndrome 5 2021-08-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with methionine at codon 242 of the SCN1B protein (p.Arg242Met). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and methionine.

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